Molecular diagnosis and genetic counseling for fragile X mental retardation.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Neurology India

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  PMID 15069237
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Fragile X Syndrome Diagnosis Treatment And Research

  2016cited by this paper
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  2008cited by this paper
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  2004cited by this paper
• A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome

  2004cited by this paper
• Further segregation analysis of the fragile X syndrome with special reference to transmitting males

  2004cited by this paper
• A cerebellar tremor/ataxia syndrome among fragile X premutation carriers

  2003cited by this paper
• Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

  2003cited by this paper
• The fragile X premutation: into the phenotypic fold.

  2002cited by this paper
• Molecular Screening of FRAXA and FRAXE in Indian Patients with Unexplained Mental Retardation

  2002cited by this paper
• The X chromosome and fragile X mental retardation

  2002cited by this paper
• Fragile X syndrome in Calcutta, India

  2001cited by this paper
• Neurobehavioral phenotype in carriers of the fragile X premutation.

  2001cited by this paper
• FMR1 and the fragile X syndrome: Human genome epidemiology review

  2001cited by this paper
• Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population

  2001cited by this paper
• Rare variants in the promoter of the fragile X syndrome gene (FMR1).

  2000cited by this paper
• Transcription of the FMR1 gene in individuals with fragile X syndrome.

  2000cited by this paper
• Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.

  2000cited by this paper
• Trinucleotide CGG repeat in the FMR1 gene in Chinese mentally retarded patients.

  1999cited by this paper
• Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies

  1999cited by this paper
• Prevalence of fragile X(A) syndrome in mentally retarded children at a genetics referral centre in Delhi, India.

  1998cited by this paper
• FMR1 in global populations.

  1996cited by this paper
• Significance of linkage disequilibrium between the fragile X locus and its flanking markers.

  1996cited by this paper
• Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families.

  1996cited by this paper
• Familial transmission of the FMR1 CGG repeat.

  1996cited by this paper
• Mental status of females with an FMR1 gene full mutation.

  1996cited by this paper
• An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

  1995cited by this paper
• Rapid antibody test for fragile X syndrome.

  1995cited by this paper
• Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males.

  1995cited by this paper
• Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors.

  1995cited by this paper
• Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals.

  1994cited by this paper
• The fragile X syndrome: implications of molecular genetics for the clinical syndrome

  1994cited by this paper
• A de novo deletion in FMR1 in a patient with developmental delay.

  1994cited by this paper
• The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes

  1994cited by this paper
• DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.

  1994cited by this paper
• Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

  1994cited by this paper
• Advances in molecular analysis of fragile X syndrome.

  1994cited by this paper
• An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.

  1993cited by this paper
• The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

  1993cited by this paper
• Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

  1993cited by this paper
• Population studies of the fragile X: a molecular approach.

  1993cited by this paper
• Population screening for fragile X.

  1992cited by this paper
• Fragile X syndrome without CCG amplification has an FMR1 deletion

  1992cited by this paper
• Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

  1992cited by this paper
• Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children.

  1992cited by this paper
• A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

  1992cited by this paper
• Fragile X Syndrome—Diagnosis, Treatment, and Research

  1992cited by this paper
• Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

  1991cited by this paper
• Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

  1991cited by this paper
• Fragile X checklist.

  1991cited by this paper
• Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

  1991cited by this paper
• Intelligence and the fra(X) syndrome: a review.

  1991cited by this paper
• Psychopathology in fragile X syndrome.

  1989cited by this paper
• A cytogenetic study of mentally retarded school children in taiwan with special reference to the fragile X chromosome

  1988cited by this paper
• Prevalence of the fragile X syndrome in four birth cohorts of children of school age

  1987cited by this paper
• Population incidence and segregation ratios in the Martin-Bell syndrome.

  1986cited by this paper
• An analysis of autism in fifty males with the fragile X syndrome.

  1986cited by this paper
• Preventive screening for the fragile X syndrome.

  1986cited by this paper
• Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.

  1986cited by this paper
• Psychiatric disability associated with the fragile X chromosome.

  1986cited by this paper
• The marker (X) syndrome: a cytogenetic and genetic analysis

  1984cited by this paper
• Autism is associated with the fragile-X syndrome

  1982cited by this paper
• Transmission of fragile (X)(q27) from normal male(s)

  1982cited by this paper
• X-Linked mental retardation with fragile X. a pedigree showing transmission by apparently unaffected males and partial expression in female carriers

  1981cited by this paper
• X-linked mental retardation with macro-orchidism and marker-X chromosomes.

  1980cited by this paper
• X-linked mental retardation: a study of 7 families.

  1980cited by this paper
• Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).

  1980cited by this paper
• Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

  1977cited by this paper
• X-linked mental retardation

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  1962cited by this paper
• Hereditary mental defect showing the pattern of sex influence.

  1961cited by this paper
• Hereditary mental defect showing the pattern of sex influence.

  1961cited by this paper
• A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE

  1943cited by this paper

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  2020cites this paper
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